Gene |
Chromosome |
Location |
Syndrome |
ABCB11 | 2 | q24 | Intraheptic cholestasis | |
ABCD4 | 7 | q21.1 | Intraheptic cholestasis | |
ANK2 | 4 | q25-q27 | Romano-Ward syndrome | |
CACNA1D | 3 | p14.3 | Sinoatrial node dysfunction | |
CHRM2 | 7 | q31-q35 | Cholinergic receptor muscarinic 2 | |
CTLA4 | 2 | q33 | Graves Disease | |
EMD | 23 | q28 | Emery-Dreifuss muscular dystrophy | |
GJA5 | 1 | q21.1 | 1q21.1 bradycardia | |
HCN4 | 15 | q24.1 | Sick sinus syndrome | |
HLA-DRB1 | 6 | p21.3 | Graves Disease | |
LIPT1 | 2 | q11.2 | Lipoyltransferase 1 deficiency | |
LMNA | 1 | q22 | Emery-Dreifuss muscular dystrophy | |
MYH6 | 14 | q12 | Sick sinus syndrome | |
NPPA | 1 | p36.21 | Atrial standstill 2 | |
PNP0 | 17 | q21.32 | Pyridoxal 5`-phosphate-dependent epilepsy | |
SCN2A | 2 | q24.3 | Paroxysmal extreme pain disorder | |
SCN5A | 3 | p21 | Sick sinus syndrome | |
SGOL1 | 3 | p24.3 | Chronic atrial dysrhythmia | |
TBX5 | 12 | q24.1 | Holt-Oram syndrome | |
TG | 8 | q24 | Graves Disease | |
TRPM4 | 19 | q13.33 | Progressive familial heart block | |
TSHR | 14 | q31 | Graves Disease | |